Linked Data
ClinVar Variation Id:
370943
dbSNP Id:
rs147030232
ExAC:
16:56534926 G / A
gnomAD v2:
16-56534926-G-A
gnomAD v3:
16-56501014-G-A
gnomAD v4:
16-56501014-G-A
PubMed:
PMID:21642631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56501014G>A , CM000678.2:g.56501014G>A | GRCh38 |
| NC_000016.9:g.56534926G>A , CM000678.1:g.56534926G>A | GRCh37 |
| NC_000016.8:g.55092427G>A | NCBI36 |
| NG_009312.1:g.24270C>T | |
| NG_009312.2:g.24011C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561877.2:c.1099C>T | ENSP00000454986.2:n.1099C>T | |
| ENST00000562012.2:c.*1066C>T | ENSP00000455651.2:n.*1066C>T | |
| ENST00000562059.2:n.2269C>T | ||
| ENST00000565781.6:n.2613C>T | ||
| ENST00000565859.2:n.2311C>T | ||
| ENST00000566210.2:n.1666C>T | ||
| ENST00000566410.2:n.2596C>T | ||
| ENST00000566495.2:n.243-37C>T | ||
| ENST00000568104.6:c.1237C>T | ENSP00000456289.1:p.Arg413Ter | |
| ENST00000569342.6:n.2772C>T | ||
| ENST00000682000.1:n.795C>T | ||
| ENST00000682001.1:n.2266C>T | ||
| ENST00000682005.1:n.1228C>T | ||
| ENST00000682021.1:n.1619C>T | ||
| ENST00000682038.1:c.*501C>T | ENSP00000508404.1:n.*501C>T | |
| ENST00000682047.1:c.1237C>T | ENSP00000507699.1:p.Arg413Ter | |
| ENST00000682088.1:c.*2023C>T | ENSP00000508064.1:n.*2023C>T | |
| ENST00000682096.1:n.2478C>T | ||
| ENST00000682113.1:n.2245C>T | ||
| ENST00000682146.1:n.2269C>T | ||
| ENST00000682187.1:c.*661C>T | ENSP00000507203.1:n.*661C>T | |
| ENST00000682188.1:c.1237C>T | ENSP00000507655.1:p.Arg413Ter | |
| ENST00000682201.1:n.1228C>T | ||
| ENST00000682205.1:c.1237C>T | ENSP00000508377.1:p.Arg413Ter | |
| ENST00000682348.1:c.*286C>T | ENSP00000506965.1:n.*286C>T | |
| ENST00000682360.1:c.640C>T | ENSP00000508007.1:p.Arg214Ter | |
| ENST00000682370.1:n.2478C>T | ||
| ENST00000682420.1:n.1659C>T | ||
| ENST00000682429.1:c.1225+339C>T | ENSP00000506827.1:n.1225+339C>T | |
| ENST00000682449.1:c.1092C>T | ENSP00000507836.1:p.Ser364= | |
| ENST00000682470.1:c.1237C>T | ENSP00000507654.1:p.Arg413Ter | |
| ENST00000682473.1:n.1202C>T | ||
| ENST00000682482.1:c.1111C>T | ENSP00000507903.1:p.Arg371Ter | |
| ENST00000682492.1:n.1485+339C>T | ||
| ENST00000682493.1:c.1237C>T | ENSP00000506778.1:p.Arg413Ter | |
| ENST00000682543.1:c.*661C>T | ENSP00000507592.1:n.*661C>T | |
| ENST00000682561.1:n.1246C>T | ||
| ENST00000682597.1:n.2478C>T | ||
| ENST00000682658.1:c.*269C>T | ENSP00000507773.1:n.*269C>T | |
| ENST00000682705.1:n.2466+339C>T | ||
| ENST00000682723.1:c.640C>T | ENSP00000507115.1:p.Arg214Ter | |
| ENST00000682735.1:c.*1696C>T | ENSP00000507007.1:n.*1696C>T | |
| ENST00000682737.1:c.640C>T | ENSP00000506876.1:p.Arg214Ter | |
| ENST00000682757.1:n.2805C>T | ||
| ENST00000682855.1:c.1237C>T | ENSP00000507027.1:p.Arg413Ter | |
| ENST00000682857.1:n.1450C>T | ||
| ENST00000682875.1:c.1237C>T | ENSP00000507771.1:p.Arg413Ter | |
| ENST00000682919.1:n.2699C>T | ||
| ENST00000682930.1:c.1162C>T | ENSP00000507981.1:p.Arg388Ter | |
| ENST00000682948.1:n.2269C>T | ||
| ENST00000682960.1:n.2269C>T | ||
| ENST00000683008.1:n.2478C>T | ||
| ENST00000683020.1:c.1225+339C>T | ENSP00000507944.1:n.1225+339C>T | |
| ENST00000683099.1:n.2478C>T | ||
| ENST00000683170.1:n.1753C>T | ||
| ENST00000683212.1:c.1225+339C>T | ENSP00000507839.1:n.1225+339C>T | |
| ENST00000683248.1:n.1986C>T | ||
| ENST00000683343.1:n.2251+339C>T | ||
| ENST00000683347.1:n.1444C>T | ||
| ENST00000683384.1:c.1258C>T | ENSP00000508330.1:n.1258C>T | |
| ENST00000683396.1:n.2805C>T | ||
| ENST00000683410.1:n.1659C>T | ||
| ENST00000683443.1:n.871C>T | ||
| ENST00000683485.1:n.2596C>T | ||
| ENST00000683504.1:n.5619C>T | ||
| ENST00000683533.1:c.*661C>T | ENSP00000508296.1:n.*661C>T | |
| ENST00000683609.1:n.2257+339C>T | ||
| ENST00000683644.1:c.*286C>T | ENSP00000507914.1:n.*286C>T | |
| ENST00000683660.1:n.1450C>T | ||
| ENST00000683669.1:n.1120C>T | ||
| ENST00000683690.1:c.*1480C>T | ENSP00000508152.1:n.*1480C>T | |
| ENST00000683719.1:n.1220C>T | ||
| ENST00000683757.1:n.1226C>T | ||
| ENST00000683858.1:c.1226-37C>T | ENSP00000507657.1:n.1226-37C>T | |
| ENST00000683875.1:c.1009C>T | ENSP00000507602.1:p.Arg337Ter | |
| ENST00000683904.1:n.2596C>T | ||
| ENST00000683910.1:n.1777C>T | ||
| ENST00000683959.1:c.*286C>T | ENSP00000508309.1:n.*286C>T | |
| ENST00000683976.1:c.*786C>T | ENSP00000507183.1:n.*786C>T | |
| ENST00000683978.1:n.1380C>T | ||
| ENST00000683992.1:c.*877C>T | ENSP00000508144.1:n.*877C>T | |
| ENST00000684020.1:n.1659C>T | ||
| ENST00000684044.1:n.2257+339C>T | ||
| ENST00000684057.1:n.2027C>T | ||
| ENST00000684076.1:n.1408C>T | ||
| ENST00000684128.1:n.2805C>T | ||
| ENST00000684194.1:n.1659C>T | ||
| ENST00000684205.1:n.2916C>T | ||
| ENST00000684246.1:c.*877C>T | ENSP00000508273.1:n.*877C>T | |
| ENST00000684388.1:c.157C>T | ENSP00000507647.1:p.Arg53Ter | |
| ENST00000684402.1:n.2478C>T | ||
| ENST00000684446.1:n.2596C>T | ||
| ENST00000684531.1:n.1470C>T | ||
| ENST00000684635.1:c.1132C>T | ENSP00000507335.1:p.Arg378Ter | |
| ENST00000684640.1:c.1231+339C>T | ENSP00000507292.1:n.1231+339C>T | |
| ENST00000684673.1:c.1237C>T | ENSP00000507746.1:p.Arg413Ter | |
| ENST00000684684.1:c.*649+339C>T | ENSP00000507026.1:n.*649+339C>T | |
| ENST00000245157.11:c.1237C>T MANE Select | ENSP00000245157.5:p.Arg413Ter | |
| ENST00000245157.9:c.1237C>T | ENSP00000245157.5:p.Arg413Ter | |
| ENST00000562012.1:c.629C>T | ENSP00000455651.1:n.629C>T | |
| ENST00000562059.1:n.466C>T | ||
| ENST00000565781.5:n.2613C>T | ||
| ENST00000566210.1:n.163C>T | ||
| ENST00000566495.1:n.243-37C>T | ||
| ENST00000568104.5:c.1237C>T | ENSP00000456289.1:p.Arg413Ter | |
| NM_031885.3:c.1237C>T | NP_114091.3:p.Arg413Ter | |
| XM_005256080.1:c.1237C>T | XP_005256137.1:p.Arg413Ter | |
| XM_005256081.1:c.1237C>T | XP_005256138.1:p.Arg413Ter | |
| XM_005256082.1:c.1237C>T | XP_005256139.1:p.Arg413Ter | |
| XR_933378.1:n.1458+339C>T | ||
| XR_933379.1:n.1458+339C>T | ||
| XR_933380.1:n.1458+339C>T | ||
| XM_005256080.2:c.1237C>T | XP_005256137.1:p.Arg413Ter | |
| XR_001751958.1:n.1470C>T | ||
| XR_001751959.2:n.1470C>T | ||
| XR_001751960.1:n.1458+339C>T | ||
| XR_001751961.1:n.1458+339C>T | ||
| XR_933380.2:n.1458+339C>T | ||
| NM_031885.4:c.1237C>T | NP_114091.3:p.Arg413Ter | |
| NM_001377456.1:c.1237C>T | NP_001364385.1:p.Arg413Ter | |
| NM_031885.5:c.1237C>T MANE Select | NP_114091.4:p.Arg413Ter | |
| NR_165293.1:n.1399C>T | ||
| NR_165294.1:n.1399C>T | ||
| NR_165295.1:n.1387+339C>T | ||
| NR_165296.1:n.1387+339C>T | ||
| NR_165297.1:n.1387+339C>T |